Abstract
A 21 day-old boy infant was admitted to pediatric intensive care unit with hypotonia, jaundice and abdominal distention. He was born at 37th week of gestation from first cousin Saudi parents via cesarian section with a birth weight of 2200 g. Physical examination revealed the weight, the length was and the head circumference were <3rd percentile.
Highlights
A 21 day-old boy infant was admitted to pediatric intensive care unit with hypotonia, jaundice and abdominal distention
He was diagnosed as renal tubulopathy based on polyuria with proteinuria: 167 mg/dL, elevated fractional excretion of Na (FENA: 4.89%) and fractional excretion of K (FEK: 66%)
Based on all signs and laboratory findings, the baby was diagnosed as arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome
Summary
A 21 day-old boy infant was admitted to pediatric intensive care unit with hypotonia, jaundice and abdominal distention. There were generalized hypotonia, hepatomegaly, abdominal distention and multiple contractures such as radial deviation of the wrist joint (Figure 1). He was diagnosed as renal tubulopathy based on polyuria with proteinuria: 167 mg/dL, elevated fractional excretion of Na (FENA: 4.89%) and fractional excretion of K (FEK: 66%). Abdominal ultrasound revealed hepatomegaly and bilateral mildly increased renal echogenity.
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